This study shows that the ASM (zeige SMPD1 ELISA Kits) alternative splicing pattern could be a biological target with diagnostic relevance and could serve as a novel biomarker for Major depressive disorder

this is the largest study on mutation analysis of patients with ASM (zeige SMPD1 ELISA Kits)-deficient Niemann-Pick disease reported in literature and also the first study on the SMPD1 (zeige SMPD1 ELISA Kits) gene mutation spectrum in India.

ASM (zeige SMPD1 ELISA Kits) and ceramides, together with STX6 (zeige STX6 ELISA Kits) and cholesterol, constitute a new regulatory mechanism for the exit of Met from the Golgi during its biosynthetic route.

Beschreibung des Gens

The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified.